MTHFR C677T基因多态性与代谢综合征的相关性研究

The association of MTHFR allele 677C/T polymorphism with metabolism syndrome in Chinese patients

目的探讨中国福建地区汉族人群N5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与代谢综合征(metabolism syndrome,MS)病的关系。方法研究对象375例,其中正常对照组120例,MS组255例,采用PCR-RFLP方法和基因测序鉴定MTHFRC677T基因型,测定肌酐、尿酸、甘油三酯、空腹血糖等生化指标,统计分析采用卡方检验、方差分析、Logistic回归。结果MTHFRC677T基因型和等位基因频率在MS组和正常对照组间分布有统计学差异(P<0.05)。MS组中CC、CT、TT各基因型的血尿酸水平依次递增,有显著性差异(P<0.05),经两两比较后,CT基因型的血尿酸水平较CC型高,差异有统计学意义(P<0.05)。在调整了其它混杂因素的影响后,年龄、体重指数和携带T等位基因是MS的危险因素。结论MTHFR基因C677T多态性与尿酸水平和MS病相关。

OBJECTIVE To investigate the association N5,10-methylenetetrahydrofolate reductase（MTHFR）gene 677C/T polymorphism with metabolism syndrome（MS）in Fujian province Chinese patients.METHODS 255 MS and 120 healthy controls were collected,MTHFR gene C677T polymorphisms using PCR and RFLP.Basic clinical data such as age,sex,BMI,creatinine,uric acid,triglyceride and fasting plasma glucose was collected.The datas were analyzed by analysis of Variance,Covariance,Chi-square Test and Logistic Regression.RESULTS MTHFR gene showed a significant difference in genotype frequencies distribution in the two groups（P0.05）.The serum uric acid level of MTHFR gene CC,CT and TT genotype were increased progressively,and after multiple comparisons analysis the serum uric acid level of MTHFR gene CT genotype were significantly higher than that of CC（P0.05）.Age,BMI and MTHFR gene T allele were risk factors associated with MS after logistic regression analysis.CONCLUSION MTHFR gene polymorphisms was significantly associated with uric acid level and MS.